Children With 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and Their Implications for Intervention

Abstract

7q11.23 duplication syndrome is a recently documented genetic disorder associated with severe speech delay, language delay, a characteristic facies, hypotonia, developmental delay, and social anxiety. Children with this syndrome demonstrate developmentally appropriate nonverbal pragmatic abilities in socially comfortable situations. Motor speech disorder (childhood apraxia of speech and/or dysarthria), oral apraxia, and/or phonological disorder, or symptoms of these disorders, are common, as are characteristics consistent with expressive language disorder. Intensive speech/language therapy is critical for maximizing long-term outcomes.